VPS13C - vacuolar protein sorting 13 homolog C Gene

Also Known as BLTP5C; PARK23

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54832

About VPS13C

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:61,852,389-62,060,447 (from NCBI)

This gene has 12 transcripts (splice variants), 210 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 9.0), spleen (RPKM 8.6) and 25 other tissues.

Summary

This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

VPS13C Products (4)

mRNA	Protein	Name
NM_001018088.3	NP_001018098.1	intermembrane lipid transfer protein VPS13C isoform 2B
NM_017684.5	NP_060154.3	intermembrane lipid transfer protein VPS13C isoform 1A
NM_018080.4	NP_060550.2	intermembrane lipid transfer protein VPS13C isoform 1B
NM_020821.3	NP_065872.1	intermembrane lipid transfer protein VPS13C isoform 2A

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Referencias	Source
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	26942284	GOA
involved in negative regulation of type 2 mitophagy	IMP IMP: Inferred from mutant phenotype	26942284	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in cytosol	IDA IDA: Inferred from direct assay	26942284	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	30093493	GOA
located in late endosome	IDA IDA: Inferred from direct assay	30093493	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	30093493	GOA
located in lysosome	IDA IDA: Inferred from direct assay	30093493	GOA
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	26942284	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VPS13C Protein Structure

Chorein_N

SHR-BD

ATG_C

0
600
1200
1800
2400
3000
3600
3753 a.a.

Protein Preferred Names	Protein Names
intermembrane lipid transfer protein VPS13C vacuolar protein sorting-associated protein 13C	bridge-like lipid transfer protein family member 5C

Protein Preferred Names

Protein Names

intermembrane lipid transfer protein VPS13C

vacuolar protein sorting-associated protein 13C

bridge-like lipid transfer protein family member 5C

Related Diseases

Diseases	Alias
Parkinson Disease 23, Autosomal Recessive Early-Onset	Autosomal Recessive Early-Onset Parkinson Disease 23 PARK23 Parkinson Disease 23, Autosomal Recessive, Early Onset Parkinson'S Disease 23 Autosomal Recessive Early-Onset Parkinson'S Disease 23 Parkinson Disease, Type 23, Autosomal Recessive, Early Onset
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Parkinson Disease 2, Autosomal Recessive Juvenile	Young-Onset Parkinson Disease PARK2 Pdj Autosomal Recessive Juvenile Parkinson Disease 2 Epdf Parkinson Disease, Juvenile, Type 2 Parkinson'S Disease 2 Autosomal Recessive Juvenile Parkinson Disease Early-Onset Parkinson Disease Parkinson Disease 2 Parkinson Disease, Juvenile, Autosomal Recessive Parkinsonism, Early-Onset, With Diurnal Fluctuation Autosomal Recessive Juvenile Parkinson'S Disease 2 Jp Juvenile Parkinsonism Parkinson Disease Autosomal Recessive, Early Onset Parkinsonism, Early Onset, With Diurnal Fluctuation Yopd Autosomal Recessive Early-Onset Parkinson Disease Type 2 Chromosome 6-Linked Autosomal Recessive Parkinsonism Early-Onset Parkinsonism With Diurnal Fluctuation Parkinsonism Young Adult Onset Parkinson Disease, Type 2 Parkinsonism, Juvenile
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid Dysgenesis CHNG2 Thyroid Hypoplasia Thyroid Hemiagenesis Thyroid Agenesis Athyreotic Hypothyroidism Rtsh Thyrotropin Resistance Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia Congenital Nongoitrous Hypothyroidism 2 Thyroid, Ectopic Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Hypothyroidism, Athyreotic Thyrotropin Resistance To Thyrotropin Congenital Hypothyroidism Due To Thyroid Dysgenesis Or Hypoplasia Hypothyroidism, Congenital, Non-Goitrous, 2 Congenital Hypothyroidism Due To Thyroid Dysgenesis Thyroid-Stimulating Hormone Resistance Thyroid Ectopic Ectopic Thyroid Hypothyroidism, Congenital, Nongoitrous, 3 Thyroid Hormone Resistance Syndrome Hypothyroidism, Congenital, Nongoitrous, 1
Choreoacanthocytosis	Chorea-Acanthocytosis CHAC Acanthocytosis With Neurologic Disorder Levine-Critchley Syndrome Choreaacanthocytosis Chorea Acanthocytosis Neuroacanthocytosis Levine-Critchley Syndrome, Formerly Neuroacanthocytosis, Formerly Choreo-Acanthocytosis Acanthocytosis Chorea Chorea Acanthocytosis Syndrome
Neuroacanthocytosis	Neuroacanthocytosis Syndrome
Dystonia 26, Myoclonic	Myoclonic Dystonia 26 DYT26
Parkinson Disease 20, Early-Onset	Early-Onset Parkinson Disease 20 PARK20 Parkinson'S Disease 20 Early-Onset Parkinson'S Disease 20 Parkinson Disease, Type 20, Early-Onset
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Parkinson Disease 21	PARK21 Parkinson'S Disease 21 Parkinson Disease, Type 21
Mcleod Syndrome	Mcleod Neuroacanthocytosis Syndrome MLS X-Linked Mcleod Syndrome Mcleod Phenotype Neuroacanthocytosis, Mcleod Type Mcleod Syndrome With Or Without Chronic Granulomatous Disease MCLDS Mcleod Type Neuroacanthocytosis Mcleod Syndrome With Chronic Granulomatous Disease Neuroacanthocytosis Mcleod Type Blood Group Deletion Syndrome
Early-Onset Parkinson'S Disease	Early-Onset Parkinson Disease
Spinocerebellar Ataxia, Autosomal Recessive 4	SCAR4 Scasi Spinocerebellar Ataxia With Saccadic Intrusions Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome Spinocerebellar Ataxia 24 Autosomal Recessive Spinocerebellar Ataxia 4 Sca24 Spinocerebellar Ataxia 24, Formerly Sca24, Formerly Spinocerebellar Ataxia Autosomal Recessive 4 Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Ceroid Lipofuscinosis, Neuronal, 7	CLN7 Neuronal Ceroid Lipofuscinosis 7 Cln7 Disease Cln7 Disease, Late Infantile Mfsd8-Related Neuronal Ceroid Lipofuscinosis Turkish Variant Late Infantile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 7
Combined Oxidative Phosphorylation Deficiency 32	COXPD32
Dystonia 11, Myoclonic	Myoclonic Dystonia Myoclonus-Dystonia Syndrome DYT11 Myoclonic Dystonia 11 Alcohol-Responsive Dystonia Myoclonus, Hereditary Essential Dystonia-11, Myoclonic Myoclonus-Dystonia Dystonia 11 Hereditary Essential Myoclonus Dystonia, Alcohol-Responsive Dyt-Sgce Dystonia, Alcohol Responsive Dystonia-11 Dystonia, Myoclonic Dystonia, Myoclonic, Type 11
Choreatic Disease	Chorea Hereditary Chorea
Movement Disease	Movement Disorders Movement Disorder
Spastic Ataxia	Spax Ataxia, Spastic
Dementia, Lewy Body	Lewy Body Dementia Lewy Body Disease Diffuse Lewy Body Disease Dementia With Lewy Bodies DLB Autosomal Dominant Diffuse Lewy Body Disease Cortical Lewy Body Disease Dementia, Lewy Body, Susceptibility To Lewy Body Dementia, Susceptibility To Senile Dementia Of The Lewy Body Type Dementia Of The Lewy Body Type Lbd Diffuse Lewy Body Disease With Gaze Palsy Dysphasic Dementia Hereditary Lewy Body Type Senile Dementia Lewy Body Variant Of Alzheimer Disease Lewy Bodies Lewy Body Dlbd - [Diffuse Lewy Body Disease] Clbd - [Cortical Lewy Body Disease]
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS15674	VPS13C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20205	Vps13c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26710	Vps13c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	VPS13C	VGNC	VGNC:79399
Bos taurus	VPS13C	VGNC	VGNC:36810
Rattus norvegicus	VPS13C	RGD	RGD:1560364
Felis catus	VPS13C	VGNC	VGNC:66956
Canis familiaris	VPS13C	VGNC	VGNC:48276
Mus musculus	VPS13C	MGD	MGI:2444207
Others	VPS13C	NCBI